Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659299 | SCV000781107 | pathogenic | CHARGE association | 2016-11-01 | criteria provided, single submitter | clinical testing | |
DASA | RCV000659299 | SCV002073787 | likely pathogenic | CHARGE association | 2022-02-05 | criteria provided, single submitter | clinical testing | This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 547193; PMID: 29178447; 29300383) - PS4. This variant is not present in population databases (rs1554602588; gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic. |